Detalhe da pesquisa
1.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220290
2.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
; 104(3): 422-438, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773277
3.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
4.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Am J Hum Genet
; 103(4): 602-611, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269814
5.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Am J Hum Genet
; 101(5): 815-823, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100092
6.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
J Inherit Metab Dis
; 43(6): 1321-1332, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588908
7.
Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.
Clin Genet
; 95(1): 112-121, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054924
8.
Hot water epilepsy and SYN1 variants.
Epilepsia
; 59(11): 2162-2163, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30390306
9.
Leveraging interacting signaling pathways to robustly improve the quality and yield of human pluripotent stem cell-derived hepatoblasts and hepatocytes.
Stem Cell Reports
; 17(3): 584-598, 2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120625
10.
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Eur J Med Genet
; 63(4): 103822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31805394
11.
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Mol Genet Genomic Med
; 7(7): e00743, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127708
12.
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
Bone
; 121: 163-171, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30599297